Enchondromatosis: genes and variants
Enchondromatosis is linked to 2 analyzed proteins (IDH1 and HIF1A). 6 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Enchondromatosis
IDH1: Isocitrate dehydrogenase [NADP] cytoplasmic
It normally generates alpha-ketoglutarate and NADPH in the cytosol and peroxisomes. Recurrent cancer-associated variants at R132 acquire the ability to produce D-2-hydroxyglutarate, an oncometabolite that rewires epigenetic regulation in glioma, leukemia, and other tumors.
3 disease-causing and 2 uncertain variants in IDH1 are linked to Enchondromatosis.
HIF1A: Hypoxia-inducible factor 1-alpha
When oxygen falls, its stabilization activates transcriptional programs that increase glycolysis, angiogenesis, erythropoietic support, and other adaptations to hypoxia. Persistent HIF-1 signaling can help tumors survive oxygen-poor environments and contributes to ischemic and inflammatory disease biology.
3 disease-causing and 1 uncertain variants in HIF1A are linked to Enchondromatosis.
Weakly linked (only a few uncertain records): IDH2.
Known disease-causing variants in Enchondromatosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IDH1 R132H | 132 | Disease-causing (★★) | |
| IDH1 R132C | 132 | Disease-causing (★★) | |
| HIF1A P215L | 215 | Interaction with TSGA10 | Disease-causing (★) |
| IDH1 I189V | 189 | Disease-causing (★) | |
| HIF1A S692C | 692 | ID | Disease-causing (★) |
| HIF1A R631H | 631 | ID | Disease-causing (★) |
Diseases related to Enchondromatosis
- Maffucci syndrome, also linked to HIF1A and IDH1
- Acute myeloid leukemia, also linked to IDH1
- Paroxysmal extreme pain disorder, also linked to IDH1
Frequently asked questions
Which genes are linked to Enchondromatosis?
In CATVariant, Enchondromatosis is linked to 2 analyzed proteins: IDH1 (Isocitrate dehydrogenase [NADP] cytoplasmic) and HIF1A (Hypoxia-inducible factor 1-alpha).
How many genetic variants are linked to Enchondromatosis?
11 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Enchondromatosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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